Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs150594290
rs150594290
ALPL
3 1.000 0.080 1 21575894 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs786204473
rs786204473
ALPL
4 0.925 0.080 1 21573673 missense variant G/A snv 0.010 1.000 1 2002 2002
dbSNP: rs373345919
rs373345919
G6PC
5 0.882 0.080 17 42909364 stop gained C/T snv 2.8E-05 2.8E-05 0.010 1.000 1 2000 2000
dbSNP: rs202085145
rs202085145
SUOX
6 1.000 0.080 12 56002720 missense variant G/T snv 1.0E-03 5.6E-04 0.700 0